Varaico: Literature-Extracted Genetic Variants

Gene:CHD1L
Variant:p.K77R

CHD1L

157 papers

RefSeq Summary

This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene...

Pfam Domains

SNF2-rel_domaa 1–255UCSCSNF2-related domain
Helicase_Caa 275–387UCSCHelicase conserved C-terminal domain

Gene Aliases

HGNC Name

chromodomain helicase DNA binding protein 1 like

HGNC Alias Symbol

ALC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_004284.6
p.K77R
c.230A>G
Surrounding Variants
1 paper
NM_004284.6
p.L75M
c.223C>A
1 paper
NM_004284.6
p.E72K
c.214G>A
1 paper
NM_004284.6
p.D71_E72delFs
c.213_214delTG
1 paper
NM_004284.6
p.C67Y
c.200G>A
1 paper
NM_004284.6
p.N65delFs
c.194_195delAT
1 paper
NM_004284.6
p.R60_F61insAGC
c.178_182ins9
1 paper
NM_004284.6
p.A58P
c.172G>C
1 paper
NM_004284.6
p.L57F
c.169C>T
1 paper
NM_004284.6
p.R47H
c.140G>A
2 papers
NM_004284.6
p.L88W
c.263T>G
1 paper
NM_004284.6
p.Q115Q
c.345G>A
2 papers
NM_004284.6
p.R116Splc
c.348-1G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."